Kedzierski Piotr, Torbicki Adam
Department of Pulmonary Circulation, Thromboembolic Diseases and Cardiology, Centre of Postgraduate Medical Education, European Health Center-Otwock, Member of ERN-LUNG; Otwock-Poland.
Anatol J Cardiol. 2019 Sep;22(4):168-171. doi: 10.14744/AnatolJCardiol.2019.97820.
Pulmonary hypertension (PH) is a common finding that can result from many different pathological conditions. Depending on the etiology, treatment may be quite different, but early diagnosis and correct classification of PH is difficult. With an aging population and recently suggested decreased pulmonary arterial pressure threshold defining PH, we are facing even more diagnostic uncertainties. A new approach to patients' phenotyping is needed. Here we present available data and future perspectives on employing an in-depth analysis of the omics cascade to allow an earlier and more reliable diagnosis and classification of PH. Indeed, with the help of super-fast computing, it became possible to simultaneously consider the levels of thousands of potential biomarkers to find patterns specific for clinically suspected disease. The omics cascade is an invaluable source of information. However, while the genome can be perceived as providing possibilities, transcriptome-as carving them this is metabolome that may tell us 'what is really going on' in an individual living organism. Metabolomics research requires blinded search for characteristic patterns of discreet changes in the levels of detectable metabolites. Since as many as 40,000 various substances are produced as a 'side effect of staying alive', metabolite profiling can be compared to fishing up for organized signals in a universe of chaos. Although difficult, such search for metabolic patterns that might lead to replacing the term biomarker by metabolic fingerprinting in the area of pulmonary circulation has already begun.
肺动脉高压(PH)是一种常见的病症,可由多种不同的病理状况引起。根据病因不同,治疗方法可能差异很大,但PH的早期诊断和正确分类颇具难度。随着人口老龄化以及近期关于定义PH的肺动脉压阈值有所降低的建议,我们面临着更多的诊断不确定性。因此需要一种新的患者表型分析方法。在此,我们展示了关于采用对组学级联进行深入分析以实现PH更早期、更可靠诊断及分类的现有数据和未来展望。事实上,借助超高速计算,能够同时考虑数千种潜在生物标志物的水平,以找到临床疑似疾病特有的模式。组学级联是一个宝贵的信息来源。然而,虽然基因组可被视为提供了可能性,转录组——正如雕琢它们一样——而代谢组可能会告诉我们个体生物体中“实际发生了什么”。代谢组学研究需要盲目寻找可检测代谢物水平离散变化的特征模式。由于多达40,000种各种物质作为“维持生命的副作用”产生,代谢物谱分析可被比作在一片混乱的宇宙中捞取有组织的信号。尽管困难,但在肺循环领域寻找可能导致用代谢指纹取代生物标志物这一术语的代谢模式的工作已经开始。